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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CDH23 Gene

protein-coding GIFtS: 63
GCID: GC10P073156

cadherin-related 23

(Previous names: cadherin related 23, cadherin-like 23 )
(Previous symbols: DFNB12, USH1D)

Explore 15 diseases affiliated with
CDH23 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Cadherin-Related 23¹ ²		Cadherin-23¹
USH1D¹ ² ⁵		Cadherin-Related Family Member 23²
CDHR23¹ ²		Otocadherin³
Cadherin-Like 23¹ ²		KIAA1774³
DFNB12¹		KIAA1812³
Cadherin Related 23¹		Otocadherin³

External Ids:	HGNC: 13733¹	Entrez Gene: 64072²	Ensembl: ENSG00000107736⁷	OMIM: 605516⁵	UniProtKB: Q9H251³

Export aliases for CDH23 gene to outside databases

Previous GC identifers: GC10P071942 GC10P072260 GC10P073049 GC10P072501 GC10P072826 GC10P067150

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CDH23:

This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion

glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation.

The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and

nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene.

Alternative splice variants encoding different isoforms have been described. (provided by RefSeq, Jan 2010)

UniProtKB/Swiss-Prot: CAD23_HUMAN, Q9H251

Function: Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a

homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization

of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal

development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates

mechanotransduction in cochlear hair cells. Required for normal hearing

Gene Wiki entry for CDH23

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000010.10 NC_018921.1 NT_030059.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CDH23 gene promoter:
Max1 AML1a AP-4 c-Ets-1 GATA-1 CREB deltaCREB LHX3a/Lhx3a SEF-1 (1) RSRFC4
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CDH23 promoter sequence

Search SABiosciences Chromatin IP Primers for CDH23

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CDH23

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q22.1 Ensembl cytogenetic band: 10q22.1 HGNC cytogenetic band: 10q22.1

CDH23 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDH23 gene location

GeneLoc information about chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10P073156: view genomic region (about GC identifiers)

Start:	73,156,691 bp from pter	End:	73,575,704 bp from pter
Size:	419,014 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CAD23_HUMAN, Q9H251 (See protein sequence)

Recommended Name: Cadherin-23 precursor

Size: 3354 amino acids; 369494 Da

Subunit: Interacts with PCDH15 (By similarity). Interacts with USH1C and USH1G

Subcellular location: Cell membrane; Single-pass type I membrane protein (By similarity)

3 PDB 3D structures from and Proteopedia for CDH23:

2KBR (3D)

2KBS (3D)

2LSR (3D)

Secondary accessions: C4IXS9 F6U049 Q5QGS2 Q5XKN2 Q6UWW1 Q96JL3 Q9H4K9

Alternative splicing: 8 isoforms: Q9H251-1 Q9H251-2 Q9H251-3 Q9H251-4 Q9H251-5 Q9H251-6 Q9H251-7 Q9H251-8

(No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CDH23: NX_Q9H251

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9H251

CDH23 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (9 alternative transcripts):

NP_001165401.1 NP_001165402.1 NP_001165403.1 NP_001165404.1 NP_001165405.1 NP_001165406.1 NP_001165407.1 NP_071407.4

NP_443068.1

ENSEMBL proteins:

ENSP00000299366 ENSP00000224721 ENSP00000388894 ENSP00000381789 ENSP00000381822

ENSP00000381772 ENSP00000381768

Human Recombinant Protein Products for CDH23:

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	Novus Biologicals CDH23 Protein Novus Biologicals CDH23 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CDH23

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001917	photoreceptor inner segment	--	--
GO:0005886	plasma membrane	IEA	--
GO:0005929	cilium	--	--
GO:0005932	microtubule basal body	--	--
GO:0016020	membrane	NAS	11138009

CDH23 for ontologies About GeneDecksing

CDH23 Antibody Products:

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Assay Products for CDH23:

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	Uscn ELISAs and CLIAs for CDH23

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CDH23 for domains About GeneDecksing

3 InterPro domains/families:

IPR015919 Cadherin-like

IPR020894 Cadherin_CS

IPR002126 Cadherin

Graphical View of Domain Structure for InterPro Entry Q9H251

ProtoNet protein and cluster: Q9H251

1 Blocks protein family: IPB002126 Cadherin

UniProtKB/Swiss-Prot: CAD23_HUMAN, Q9H251

Domain: Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections,

imparting a strong curvature to the full-length ectodomain (By similarity)

Similarity: Contains 27 cadherin domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: CAD23_HUMAN, Q9H251

Function: Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a

homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization

of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal

development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates

mechanotransduction in cochlear hair cells. Required for normal hearing

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005509	calcium ion binding	IEA	--
GO:0005515	protein binding	IPI	12485990

CDH23 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for CDH23:

Decreased POU5F1-GFP protein e

10 MGI mutant phenotypes (inferred from 22 alleles) (MGI details for Cdh23):

adipose tissue	behavior/neurological	cardiovascular system	digestive/alimentary	hearing/vestibular/ear
homeostasis/metabolism	integument	nervous system	reproductive system	vision/eye

CDH23 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Cdh23^tm1.2Ugds for CDH23

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CDH23

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		hsa-miR-3927 hsa-miR-214* hsa-miR-296-5p
		SwitchGear 3'UTR luciferase reporter plasmid: CDH23 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CDH23 (see all 7) OriGene shRNA RFP: CDH23 OriGene siRNA: CDH23
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		Sirion Biotech Custom design and validation of potent shRNA sequences against CDH23

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for CDH23
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector (see all 9): CDH23 (NM_022124)
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDH23

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

WNT Signaling

WNT Signaling

1.00

S-1P Stimulated Signaling

S-1P Stimulated Signaling

1.00

G12-G13 in Cellular Signaling

G12-G13 in Cellular Signaling

1.00

Nanog in Mammalian ESC Pluripotency

GSK3 Signaling

0.61

Rho Family GTPases

ILK Signaling

0.45

5 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CDH23

	S-1P Stimulated Signaling
	ILK Signaling
	GSK3 Signaling
	G12-G13 in Cellular Signaling
	WNT Signaling

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CDH23

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

4 Interacting proteins for CDH23 (Q9H251^{2, 3} ENSP00000381822⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
USH1C	Q9Y6N9³, ENSP00000005226⁴	I2D: score=4 STRING: ENSP00000005226
MYO7A	Q13402³, ENSP00000386331⁴	I2D: score=1 STRING: ENSP00000386331
--	Q7RTU8³	I2D: score=1
--	P31016²	MINT-8108252

About this table

Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006816	calcium ion transport	IMP	17234811
GO:0007156	homophilic cell adhesion	IEA	--
GO:0007605	sensory perception of sound	IMP	16679490
GO:0007626	locomotory behavior	--	--
GO:0016339	calcium-dependent cell-cell adhesion	NAS	11138009

CDH23 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CDH23 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CDH23

1 HMDB Compound for CDH23 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

1 Novoseek chemical compound relationship for CDH23 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
calcium	0	11	12522556 (5), 18384968 (2), 15829536 (1)

Search CenterWatch for drugs/clinical trials and news about CDH23 / CAD23

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CDH23 gene (9 alternative transcripts):

NM_001171930.1 NM_001171931.1 NM_001171932.1 NM_001171933.1 NM_001171934.1 NM_001171935.1 NM_001171936.1 NM_022124.5

NM_052836.3

Unigene Cluster for CDH23:

Cadherin-related 23

Hs.656032 [show with all ESTs]

Unigene Representative Sequence: NM_022124

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000461841 ENST00000299366(uc001jry.3) ENST00000224721(uc001jrz.3 uc001jrx.4)

ENST00000466757 ENST00000470494 ENST00000442677 ENST00000493280 ENST00000475158(uc001jsi.4)

ENST00000398809(uc001jrw.4 uc021psl.1) ENST00000398842(uc001jrv.3 uc009xql.3)

ENST00000398792(uc001jsc.1) ENST00000398788(uc001jsg.4 uc001jsh.4 uc001jsj.4 uc010qjr.2)

miRNA Products:		OriGene 3'-UTR Clone: CDH23 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CDH23
		3 QIAGEN miScript miRNA Assays for microRNAs that regulate CDH23:
		hsa-miR-3927 hsa-miR-214* hsa-miR-296-5p
		SwitchGear 3'UTR luciferase reporter plasmid: CDH23 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		Sirion Biotech Custom design and validation of potent shRNA sequences against CDH23

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CDH23

Additional cDNA sequence:

AB053445.1 AB058715.1 AF312024.1 AK074160.1 AK093818.1 AL122081.1 AY010111.2 AY358617.1

AY563161.1 AY563162.1 AY563165.1 AY563166.1 BC011570.1 BC032581.1 BC065284.1 BC108254.1

BC136976.1 BC136977.1 BC139903.1

16 DOTS entries:

DT.91789641 DT.40217027 DT.406132 DT.99953776 DT.121260680 DT.97836532 DT.97840186 DT.121260671

DT.40264815 DT.121260556 DT.95195633 DT.99945820 DT.121260547 DT.102842881 DT.95179205 DT.99968758

24/74 AceView cDNA sequences (see all 74):

AF312024 NM_022124 AY010111 CA394561 BQ636152 AB053445 AB058715 BM683136

BM474675 BX645395 BF925342 BQ446537 AY358617 BX114813 BU728250 CD631208

BF925341 BQ005120 AL122081 BX280626 AW007017 CK301159 CA391943 AI052066

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for CDH23 (see all 11) About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5	^	6	^	7	^	8a	·	8b	^	9	^	10	^	11	^	12	^	13	^	14a	·	14b	^	15	^	16	^	17	^	18	^	19	^	20	^	21	^	22	^	23	^
SP1:																									-								-
SP2:
SP3:
SP4:
SP5:																									-

ExUns:	24	^	25	^	26	^	27	^	28	^	29	^	30	^	31a	·	31b	^	32	^	33	^	34	^	35	^	36	^	37	^	38	^	39	^	40	^	41	^	42	^	43	^	44	^	45	^	46	^	47	^	48a	·
SP1:
SP2:															-																																				-
SP3:															-																																				-
SP4:																																																			-
SP5:

ExUns:	48b	·	48c	^	49	^	50	^	51	^	52a	·	52b
SP1:
SP2:			-
SP3:			-						-
SP4:			-						-
SP5:

ECgene alternative splicing isoforms for CDH23

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CDH23 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAGACCCCCC

About this image

CDH23 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CDH23 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CDH23

SOURCE GeneReport for Unigene cluster: Hs.656032

UniProtKB/Swiss-Prot: CAD23_HUMAN, Q9H251

Tissue specificity: Particularly strong expression in the retina. Found also in the cochlea

SABiosciences Custom PCR Arrays for CDH23

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CDH23 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat CDH23
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CDH23
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CDH23

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDH23

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CDH23 gene from 4/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CDH23¹	cadherin-related 23	77.92(n) 80.27(a)		423718 XM_421595.3 XP_421595.2
lizard (Anolis carolinensis)	Reptilia	DCHS2⁶	--	1(a)	1 ↔ 1	5(130384835-130591657)
zebrafish (Danio rerio)	Actinopterygii	cdh23¹	cadherin-like 23	66.88(n) 68.24(a)		407978 NM_214809.1 NP_999974.1
worm (Caenorhabditis elegans)	Secernentea	cdh-8⁶ cdh-4⁶	Cadherin-4	1(a)	1 ↔ 1 possible ortholog	IV(344343-358882) III(4520333-4536957)

ENSEMBL Gene Tree for CDH23 (if available)
TreeFam Gene Tree for CDH23 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CDH23 gene

DCHS1² CDHR2² DCHS2² CELSR3² FAT2² CELSR1² CDHR1² PCDH15²

FAT3² FAT4² CELSR2² FAT1²

18/23 SIMAP similar genes for CDH23 using alignment to 13 protein entries: CAD23_HUMAN (see all proteins) (see all similar genes):

FLJ00233 DKFZp434P2350 FAT3 ME5 ME3 PCDH15

PCDH1 CELSR1 FAT4 PCDH11Y PCDHA4 PCDHGA6

FAT1 CDH22 CELSR3 PCDHA13 RESDA1 ME1

CDH23 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs10762480^1,2	C,F,A,H	non-pathogenic	73537978(+)	`GACTAC/TGAGAT`	2	Y	syn¹ ese³		18		NS EA NA WA EU	2912
rs3802711^1,2	C,F,A,H	non-pathogenic	73544086(-)	`CCTTCC/TGGACC`	2	Q R	mis¹ ese³		15		NS EA NA WA EU	1766
rs4747193^1,2	C,F,A,H	non-pathogenic	73558852(+)	`GTGGGA/GGCCTC`	3	--	int¹		12		NA WA CSA EA EU	946
rs4747194^1,2	C,F,A,H	non-pathogenic	73558886(+)	`CAACCG/AGACAG`	6	/Q /R	mis¹ ese³		26		NS EA NA WA EU	3337
rs4747195^1,2	C,F,A,H	non-pathogenic	73558952(+)	`GTCCCC/TGCCCC`	6	P L	mis¹ ese³		24		NS EA NA WA EU	3139
rs10823849^1,2	C,F,A,H	non-pathogenic	73562744(+)	`CCGGCG/AGGCAC`	6	/A	syn¹ ese³		8		NA WA EA EU	933
rs150851410^1,2		--	73154703(+)	`TTCTCC/TCTCTC`	5	--	us2k¹		0	--	--	--	--
rs7091520^1,2	C,F,H	--	73154736(+)	`TCTTaG/Ctgatc`	5	--	us2k¹		15		NS EA NA WA	2060
rs140028818^1,2		--	73154741(+)	`GTGATC/GCTACT`	5	--	us2k¹		0	--	--	--	--
rs73281824^1,2	C	--	73154785(+)	`GTCAGC/TCACCA`	5	--	us2k¹		2		WA	120

HapMap Linkage Disequilibrium report for CDH23 (73156691 - 73406691 bp, first 250kb of CDH23)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 12 variations for CDH23
4 CNVs: 10335 2878 71038 29865
8 Indels: 24555 39761 11484 44779 41678 100977 44778 71039
Human Gene Mutation Database (HGMD): CDH23

Locus Specific Mutation Databases (LSDB): CDH23

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CDH23

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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CDH23 for disorders           About GeneDecksing

OMIM gene information: 605516
OMIM disorders: 601067  601386
UniProtKB/Swiss-Prot: CAD23_HUMAN, Q9H251

Defects in CDH23 are the cause of Usher syndrome type 1D (USH1D) [MIM:601067]. USH is a genetically

heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at

onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome

type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness,

absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness

Defects in CDH23 are a cause of Usher syndrome type 1D/F (USH1DF) [MIM:601067]. USH1DF patients are

heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern

Defects in CDH23 are the cause of deafness autosomal recessive type 12 (DFNB12) [MIM:601386]. DFNB12 is a form

of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear,

the nerve pathways to the brain, or the area of the brain that receives sound information

15 diseases for CDH23: About MalaCards

usher syndrome deafness, autosomal recessive 12 usher syndrome, type 1d usher syndrome type 1g

bardet-biedl syndrome usher syndrome type i usher syndrome type 3 hearing loss

nonsyndromic deafness retinal degeneration retinitis genetic disease

retinal disease alzheimer's disease blindness

4 diseases from the University of Copenhagen DISEASES database for CDH23:

Usher syndrome Nonsyndromic deafness Retinitis pigmentosa Sensorineural hearing loss

3 Novoseek disease relationships for CDH23 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
usher syndrome	96	19	18429043 (3), 18273900 (2), 11138009 (1), 16288196 (1) (see all 12)
hearing loss noise-induced	68.3	4	14648237 (1), 18348277 (1), 16598924 (1)
retinal degeneration	54.5	4	19756182 (1)

GeneTests: CDH23

Usher Syndrome Type 1

Genetic Association Database (GAD): CDH23
Human Genome Epidemiology (HuGE) Navigator: CDH23 (9 documents)

Export disorders for CDH23 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for CDH23 gene, integrated from 9 sources (see all 89):
(articles sorted by number of sources associating them with CDH23)

Utopia: connect your pdf to the dynamic
world of online information

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. (PubMed id 15660226)^{1, 2, 4, 9} Ouyang X.M.... Liu X.Z. (2005)
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. (PubMed id 11090341)^{1, 2, 3, 9} Bork J.M.... Morell R.J. (2001)
Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family. (PubMed id 12522556)^{1, 2, 9} de Brouwer A.P.M.... Kremer H. (2003)
Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss. (PubMed id 17850630)^{1, 2, 9} Wagatsuma M....Usami S. (2007)
Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I. (PubMed id 18429043)^{1, 2, 9} Oshima A....Kimberling W.J. (2008)
Assembling stable hair cell tip link complex via multidentate interactions between harmonin and cadherin 23. (PubMed id 19297620)^{1, 2, 9} Pan L....Zhang M. (2009)
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. (PubMed id 11138009)^{1, 2, 9} Bolz H.... Kubisch C. (2001)
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. (PubMed id 16679490)^{1, 2, 9} Roux A.-F....Claustres M. (2006)
Modification of human hearing loss by plasma-membrane calcium pump PMCA2. (PubMed id 15829536)^{1, 2, 9} Schultz J.M.... Griffith A.J. (2005)
Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans. (PubMed id 15537665)^{1, 2} Zheng Q.Y.... Liu X.Z. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 64072	HGNC: 13733	AceView: CDH23	Ensembl:ENSG00000107736	euGenes: HUgn64072
ECgene: CDH23	H-InvDB: CDH23

(According to HUGE)
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HUGE: KIAA1774 KIAA1812

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CDH23	Pharmacogenomics, SNPs, Pathways
Mutations of the CDH23 gene	http://www.retina-international.org/files/sci-news/cdh23mut.htm
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CDH23

Intellectual Property for CDH23 gene
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Patent Information for CDH23 gene:
Search GeneIP for patents involving CDH23

GeneCards and IP:
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cadherin-related 23

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